Embryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064211%3A_____%2F25%3AW0000079" target="_blank" >RIV/00064211:_____/25:W0000079 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/25:10498123

Result on the web

<a href="https://dx.doi.org/10.1002/bdr2.2465" target="_blank" >https://dx.doi.org/10.1002/bdr2.2465</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/bdr2.2465" target="_blank" >10.1002/bdr2.2465</a>

Result language

angličtina

Original language name

Embryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency

Original language description

BackgroundProximal Femoral Focal Deficiency (PFFD) is the most proximal manifestation of a syndrome involving Congenitally Shortened lower Limbs (CSL), which also affects the fibula and midline metatarsals. This pattern of congenital human long bone deficiencies corresponds, in a time dependent manner, to the failed ingrowth pathways of new blood vessels of the growing embryonic limb. The distal femoral condyles are, in contrast, served by an alternative vascular supply from around the knee joint, and so remain resistant to the CSL deficiency.AimWe hypothesize that embryonic vascular dysgenesis causes PFFD, as well as the cardinal features of the Femoral, Fibular and midline Metatarsal deficiencies (FFM) syndrome.ResultsArteriography of CSL with PFFD reveals diminution or failed formation of the Femoral Artery (FA), which corresponds to downstream skeletal reductions. It may also reveal preservation of the primitive Axial Artery (AA) of the embryonic limb. The combination of missing and retained primitive vessels inform the time, place, and nature of the etiologic vascular events. This suggests that PFFD is the visible expression of a normally prefigured cartilaginous scaffold of the femur, which develops in conformity with the available pattern of blood vessels present. The teratogen thalidomide, known to affect the forming embryonic vasculature, also produces PFFD indistinguishable from the naturally occurring entity.ConclusionThe entire spectrum of PFFD, including phocomelia, fibular, and metatarsal dystrophisms, should thus be regarded as downstream skeletal results of embryonic arterial dysgeneses.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30211 - Orthopaedics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

BIRTH DEFECTS RESEARCH

ISSN

2472-1727

e-ISSN

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Volume of the periodical

117

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

19

Pages from-to

-

UT code for WoS article

001460123200001

EID of the result in the Scopus database

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